Variant report

Variant	esv3441000
Chromosome Location	chr2:128380532-128383330
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:128380533..128382202-chr2:128389367..128391180,2	K562	blood:
2	chr2:128378927..128382378-chr2:128457870..128460162,3	MCF-7	breast:
3	chr2:128372104..128373861-chr2:128379908..128381447,2	K562	blood:
4	chr2:128378588..128380844-chr2:128382529..128385323,2	K562	blood:
5	chr2:128382408..128382928-chr21:9825403..9826159,2	K562	blood:
6	chr2:128375941..128378223-chr2:128378920..128381001,2	K562	blood:
7	chr2:128376581..128378906-chr2:128380891..128383389,2	K562	blood:
8	chr2:128375722..128378691-chr2:128379848..128382679,2	MCF-7	breast:
9	chr2:128379152..128382886-chr2:128385919..128388760,4	K562	blood:
10	chr2:128379959..128382926-chr2:128418686..128421294,2	K562	blood:
11	chr2:128282210..128283932-chr2:128379234..128381110,2	MCF-7	breast:
12	chr2:128380865..128383571-chr2:128398267..128401002,2	MCF-7	breast:
13	chr2:128377789..128381819-chr2:128383381..128385933,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272789	chromatin interactions
ENSG00000169994	chromatin interactions
ENSG00000072163	chromatin interactions
ENSG00000173349	chromatin interactions
ENSG00000264462	chromatin interactions

Extended variants
information (count: 163 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:163 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150200623	chr2:128380534-128380535	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs373821357	chr2:128380535-128380536	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs540464355	chr2:128380568-128380569	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs138834162	chr2:128380601-128380602	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs553999531	chr2:128380604-128380605	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs532981869	chr2:128380663-128380664	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs573421622	chr2:128380679-128380680	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs373639182	chr2:128380733-128380734	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs545173922	chr2:128380751-128380752	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs188404852	chr2:128380779-128380780	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs371460683	chr2:128380800-128380801	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs201159015	chr2:128380809-128380810	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs375997120	chr2:128380826-128380827	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs369245622	chr2:128380831-128380832	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs192739142	chr2:128380839-128380840	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs375258565	chr2:128380844-128380845	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs369791633	chr2:128380846-128380847	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs539089064	chr2:128380849-128380850	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs374003962	chr2:128380916-128380917	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs377009347	chr2:128380927-128380928	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs182704605	chr2:128380936-128380937	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs376346420	chr2:128380945-128380946	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs371100943	chr2:128380950-128380951	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs369025944	chr2:128380966-128380967	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs74372009	chr2:128380972-128380973	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs377480068	chr2:128380980-128380981	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs566722795	chr2:128381008-128381009	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs532696280	chr2:128381041-128381042	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs569027368	chr2:128381042-128381043	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs187605855	chr2:128381084-128381085	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs537801674	chr2:128381123-128381124	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs544870180	chr2:128381143-128381144	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs10174611	chr2:128381154-128381155	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs192335280	chr2:128381175-128381176	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs138721409	chr2:128381186-128381187	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs534075812	chr2:128381191-128381192	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs148966512	chr2:128381203-128381204	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs111343454	chr2:128381211-128381212	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
39	rs577121151	chr2:128381223-128381224	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs184841620	chr2:128381253-128381254	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs558805264	chr2:128381262-128381263	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs188920635	chr2:128381327-128381328	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs544316518	chr2:128381328-128381329	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs553303173	chr2:128381361-128381362	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs111687653	chr2:128381378-128381379	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs375072371	chr2:128381380-128381381	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs114088668	chr2:128381385-128381386	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs112230898	chr2:128381403-128381404	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs560376030	chr2:128381404-128381405	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs532615171	chr2:128381462-128381463	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128359200-128395200	Strong transcription	Duodenum Mucosa	Duodenum
2	chr2:128371000-128391600	Strong transcription	Fetal Intestine Large	intestine
3	chr2:128371400-128390800	Strong transcription	Fetal Intestine Small	intestine
4	chr2:128373000-128380800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:128376600-128381000	Weak transcription	HSMM	muscle
6	chr2:128376600-128391200	Weak transcription	HSMMtube	muscle
7	chr2:128377800-128382800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:128378000-128380600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:128378400-128392000	Enhancers	Primary B cells from peripheral blood	blood
10	chr2:128378400-128393600	Genic enhancers	Dnd41	blood
11	chr2:128378600-128383400	Strong transcription	Colonic Mucosa	Colon
12	chr2:128378600-128385000	Enhancers	Primary B cells from cord blood	blood
13	chr2:128379000-128381000	Weak transcription	Thymus	Thymus
14	chr2:128379000-128387600	Weak transcription	Right Atrium	heart
15	chr2:128379200-128382800	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr2:128379200-128386600	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr2:128379400-128382600	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr2:128379400-128382600	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:128379400-128383800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:128379400-128388000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:128380000-128382200	Enhancers	Fetal Thymus	thymus
22	chr2:128380000-128382400	Genic enhancers	Spleen	Spleen
23	chr2:128380000-128383000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr2:128380200-128382600	Weak transcription	Right Ventricle	heart
25	chr2:128380200-128383600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:128380400-128382200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:128380600-128381600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:128380600-128381800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:128380600-128381800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:128380600-128382600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:128380800-128381800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr2:128380800-128382200	Enhancers	NH-A	brain
33	chr2:128380800-128382800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:128381000-128381400	Enhancers	HSMM	muscle
35	chr2:128381000-128381600	Enhancers	NHDF-Ad	bronchial
36	chr2:128381000-128381600	Enhancers	NHEK	skin
37	chr2:128381000-128381600	Enhancers	Osteobl	bone
38	chr2:128381000-128381800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:128381200-128381600	Enhancers	A549	lung
40	chr2:128381200-128381800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:128381400-128387000	Weak transcription	Small Intestine	intestine
42	chr2:128381800-128382200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr2:128381800-128391000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr2:128382200-128382600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:128382200-128382800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr2:128382200-128383400	Weak transcription	Fetal Thymus	thymus
47	chr2:128382400-128382800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:128382400-128383200	Strong transcription	Spleen	Spleen
49	chr2:128382600-128382800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:128382600-128382800	Bivalent Enhancer	Placenta	Placenta

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